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81.
82.
Cornelia Zeidler Ulrike A.H. Grote Anna Nickel Beate Brand G?ran Carlsson Emília Cortes?o Carlo Dufour Caroline Duhem Gundula Notheis Helen A. Papadaki Hannah Tamary Geir E. Tj?nnfjord Fabio Tucci Jan Van Droogenbroeck Christiane Vermylen Jaroslava Voglova Blanca Xicoy Karl Welte 《Haematologica》2014,99(8):1395-1402
Long-term granulocyte-colony stimulating factor treatment has been shown to be safe and effective in severe chronic neutropenia patients. However, data on its use during pregnancy are limited. To address this issue, we analyzed all pregnancies reported to the European branch of the Severe Chronic Neutropenia International Registry since 1994. A total of 38 pregnancies in 21 women with chronic neutropenia (16 pregnancies in 10 women with congenital, 10 in 6 women with cyclic, 12 in 5 women with idiopathic neutropenia) were reported. Granulocyte-colony stimulating factor was administered throughout pregnancy in 16 women and for at least one trimester in a further 5 women. No major differences were seen between treated and untreated women with respect to pregnancy outcome, newborn complications and infections. In addition, we evaluated the genetic transmission of known or suspected genetic defects in 16 mothers having 22 newborns as well as in 8 men fathering 15 children. As a proof of inheritance, neutropenia was passed on to the newborn in 58% from female and in 62% from male patients with ELANE mutations, but also to some newborns from parents with unknown gene mutation. Based on our results, granulocyte-colony stimulating factor therapy has been shown to be safe for mothers throughout pregnancies and for newborns without any signs of teratogenicity. With an increasing number of adult patients, genetic counseling prior to conception and supportive care of mothers during pregnancy are crucial. The acceptance of having affected children may reflect the high quality of life obtained due to this treatment. 相似文献
83.
Vera Adema Laura Palomo Andrea Toma Olivier Kosmider Francisco Fuster-Tormo Rocío Benito Rocío Salgado Esperanza Such María José Larrayoz Blanca Xicoy Jesus Maria Hernandez-Sanchez Paolo Maietta Alexander Neef Michaela Fontenay Mariam Ibañez Maria Diez-Campelo Sara Alvarez Jaroslaw P. Maciejewski Pierre Fenaux Francesc Sole 《British journal of haematology》2020,189(4):e133-e137
84.
Blanca Pao Alexandre Soler Debra A Goldman Rafael Salvador Laura Buesch Carmen Sebasti Carlos Nicolau 《The British journal of radiology》2020,93(1115)
Objective:The purpose of this study is to validate a multivariable predictive model previously developed to differentiate between renal cell carcinoma (RCC) and oncocytoma using CT parameters.Methods and materials:We included 100 renal lesions with final diagnosis of RCC or oncocytoma studied before surgery with 4-phase multidetector CT (MDCT). We evaluated the characteristics of the tumors and the enhancement patterns at baseline, arterial, nephrographic and excretory MDCT phases.Results:Histopathologically 15 tumors were oncocytomas and 85 RCCs. RCCs were significantly larger (median 4.4 cm vs 2.8 cm, p = 0.006). There were significant differences in nodule attenuation in the excretory phase compared to baseline (median: 31 vs 42, p = 0.015), with RCCs having lower values. Heterogeneous enhancement patterns were also more frequent in RCCs (85.9% vs 60%, p = 0.027).Multivariable analysis showed that the independent predictors of malignancy were the enhancement pattern, with oncocytomas being more homogeneous in the nephrographic phase [Odds Ratio (OR) 0.16 (95% CI 0.03 to 0.75, p = 0.02)], nodule enhancement in the excretory phase compared to baseline, with RCCs showing lower enhancement [OR 0.96 (95% CI 0.93 to 0.99, p = 0.005)], and a size > 4 cm, with RCCs being larger [OR 5.89 (95% CI 1.10 to 31.58), p = 0.038].Conclusion:The multivariable predictive model previously developed which combines different MDCT parameters, including lesion size > 4 cm, lesion enhancement in the excretory phase compared to baseline and enhancement heterogeneity, can be successfully applied to distinguish RCC from oncocytoma.Advances in knowledge:This study confirms that multiparametric assessment using MDCT (including parameters such as size, homogeneity and enhancement differences between the excretory and the baseline phases) can help distinguish between RCCs and oncocytomas. While it is true that this multiparametric predictive model may not always correctly classify renal tumors such as RCC or oncocytoma, it can be used to determine which patients would benefit from pre-surgical biopsy to confirm that the tumor is in fact an oncocytoma, and thereby avoid unnecessary surgical treatments. 相似文献
85.
Antonio Pérez-Martínez Cristina Ferreras Antonia Pascual Marta Gonzalez-Vicent Laura Alonso Isabel Badell José María Fernández Navarro Alexandra Regueiro Mercedes Plaza Jose María Pérez Hurtado Ana Benito Cristina Beléndez José Miguel Couselo José Luis Fuster Mariana Díaz-Almirón David Bueno Yasmina Mozo Julia Marsal Alicia Gómez López Luisa Sisinni Cristina Díaz de Heredia Miguel Ángel Díaz 《American journal of hematology》2020,95(1):28-37
A total of 192 pediatric patients, median age 8.6 years, with high-risk hematological malignancies, underwent haploidentical stem cell transplantation (haplo-HSCT) using post-transplantation cyclophosphamide (PT-Cy), or ex vivo T cell-depleted (TCD) graft platforms, from January 1999 to December 2016 in 10 centers in Spain. Some 41 patients received an unmanipulated graft followed by PT-Cy for graft-vs-host disease (GvHD) prophylaxis. A total of 151 patients were transplanted with CD3-depleted peripheral blood stem cells (PBSCs) by either CD34+ selection, CD3+CD19+ depletion, TCRαβ+CD19+ depletion or CD45RA+ depletion, added to CD34+ selection for GvHD prophylaxis. The PBSCs were the only source in patients following ex vivo TCD haplo-HSCT; bone marrow was the source in 9 of 41 patients following PT-CY haplo-HSCT. Engraftment was achieved in 91.3% of cases. A donor younger than 30 years, and the development of chronic GvHD were positive factors influencing survival, whereas positive minimal residual disease (MRD) before transplant and lymphoid disease were negative factors. The probability of relapse increased with lymphoid malignancies, a donor killer-cell immunoglobulin-like receptor (KIR) haplotype A and positive MRD pretransplant. No difference was found in overall survival, disease-free survival or relapse incidence between the two platforms. Relapse is still of concern in both platforms, and it should be the focus of future efforts. In conclusion, both platforms for haplo-HSCT were effective and could be utilized depending on the comfort level of the center. 相似文献
86.
Miquel Morera-Llorca José Enrique Romeu-Climent Guillem Lera-Calatayud Blanca Folch-Marín Vicente Palop-Larrea Sonia Vidal-Rubio 《Gaceta sanitaria / S.E.S.P.A.S》2014
Despite the high prevalence of mental health problems among patients attending primary care, diagnosis and treatment of these disorders remain inadequate. Sound training of primary care physicians in how to manage mental health problems is needed to reduce the health, economic and social impact associated with these disorders. Among other elements, there is a need for cooperation between primary care physicians and mental health services. Distinct models are available for such collaboration. In 2006, our health department started a collaboration between these two levels of heath care, using a liaison model. Delays until the first specialist visit were reduced and satisfaction among health professionals increased, although these results should be interpreted with caution. Evidence has recently accumulated on the usefulness of the collaborative model, but evaluation of this model and extrapolation of its results are complex. We intend to evaluate our model more thoroughly, similar to other projects in our environment. 相似文献
87.
Daniel Ortuño-Sahagún Raúl Montes González Ester Verdaguer Verónica Chaparro Huerta Blanca M. Torres-Mendoza Lourdes Lemus Martha Catalina Rivera-Cervantes A. Camins C. Beas Zárate 《Journal of molecular neuroscience : MN》2014,52(3):366-377
Current knowledge concerning the molecular mechanisms of the cellular response to excitotoxic insults in neurodegenerative diseases is insufficient. Although glutamate (Glu) has been widely studied as the main excitatory neurotransmitter and principal excitotoxic agent, the neuroprotective response enacted by neurons is not yet completely understood. Some of the molecular participants have been revealed, but the signaling pathways involved in this protective response are just beginning to be identified. Here, we demonstrate in vivo that, in response to the cell damage and death induced by Glu excitotoxicity, neurons orchestrate a survival response through the extracellular signal-regulated kinase (ERK) signaling pathway by increasing ERK expression in the rat hippocampal (CA1) region, allowing increased neuronal survival. In addition, this protective response is specifically reversed by U0126, an ERK inhibitor, which promotes cell death only when it is administered together with Glu. Our findings demonstrate that the ERK signaling pathway has a neuroprotective role in the response to Glu-induced excitotoxicity in hippocampal neurons. Therefore, the ERK signaling pathway may be activated as a cellular response to excitotoxic injury to prevent damage and neural loss, representing a novel therapeutic target in the treatment of neurodegenerative diseases. 相似文献
88.
Maite Augusta Gil-Ruiz Gil-Esparza Andrés José Alcaraz Romero Alfonso Romero Otero Nuria Gil Villanueva Eva Sanavia Morán Ana Rodríguez Sánchez de la Blanca Jorge Lorente Romero José María Bellón Cano 《Pediatric nephrology (Berlin, Germany)》2014,29(7):1265-1272
Background
Acute renal injury increases risk of death after cardiac surgery. The objective of the study was to evaluate the ability of the pediatric Risk, Injury, Failure, Loss, End-Stage Renal Disease (pRIFLE) criteria to characterize the development of postoperative renal damage in children after cardiopulmonary bypass (CPB) and to evaluate the relationship between the severity of kidney injury and mortality, pediatric intensive care unit (PICU) length of stay, and the duration of mechanical ventilation (MV).Methods
In this retrospective study including children undergoing CPB surgery during a 3-year period in the PICU of a tertiary hospital, demographic, clinical, surgery-related, and postoperative clinical data were collected. Kidney damage was assessed with pRIFLE criteria.Results
Four hundred and nine patients were included. Early acute kidney injury (AKI) was found in 82 patients (achieving categories Risk 44; Injury 16; Failure 22). Early AKI was associated with younger age (P?=?0.010), longer CPB, deep hypothermic circulatory arrest (DHCA) use, ICU stay >12 days, MV >4 days, and death (P?<?0.001). Controlling the effect of age, CPB, DHCA use, previous cardiac surgeries, and Risk Adjustment in Congenital Heart Surgery Surgical Severity Score (RACHS-1), early AKI development proved to predict ICU stay >12 days [odds ratio (OR) 3.5; 95 % confidence interval (CI) 1.9–6.5, P?<?0.001)] and need of MV >4 days (OR 5.1; 95 % CI 2.6–10.2, P?<?0.001).Conclusions
Early AKI when evaluated with the pRIFLE criteria can predict prolonged ICU stay, need of prolonged MV, and mortality. 相似文献89.
L. Alsina R. Colobran M.F. de Sevilla A. Català L. Viñas S. Ricart A.M. Plaza S. Lois M. Juan R. Pujol-Borrell M. Martinez-Gallo 《Clinical immunology (Orlando, Fla.)》2014,153(2):292-297
Familial Hemophagocytic Lymphohistiocytosis type 3 (FHL3) is a genetic disorder caused by mutations in UNC13D gene, coding the granule priming factor Munc13-4 that intervenes in NK and T cell cytotoxic function. Here we report the case of a 17-month-old girl with prolonged symptomatic EBV infectious mononucleosis and clinical symptoms of hemophagocytic syndrome. In vitro functional analysis pointed to a degranulation defect. The genetic analysis of UNC13D gene identified initially a heterozygous mutation (c.753 + 1G > T) in the donor splice-site that resulted in exon 9 skipping (maternal allele). Mutations in other genes were considered, but additional analysis of UNC13D cDNA revealed in the paternal allele a heterozygous transition from G to A (c.2448 − 13G > A) at the 3′ acceptor splice-site in intron 25, generating a new acceptor splice-site that leads to a frameshift and a premature STOP codon. Allele specific amplification of the cDNA confirmed the absence of a functional mRNA from the paternal allele. This case illustrates an atypical compound heterozygous UNC13D mutation affecting the RNA splicing that generates a typical FHL3 phenotype. 相似文献